Figure 1:

Tiered genetic diagnostics in couple infertility according to AWMF guideline 015/085.

*Because the definitive diagnosis of CBAVD can only be made during the surgery and not only based on hormonal and clinical parameters, the chromosomal and AZF analyses should be performed in case of an inconclusive clinical diagnosis.

**Specific phenotypes such as multiple morphological abnormalities of sperm flagella (MMAF) or forms of astheno-/teratozoospermia are often accompanied by oligozoospermia and, thus, karyotype and AZF analysis are indicated.

***Due to recent advances in exome sequencing, a gene panel analyses could be performed in cases of unexplained primary/premature ovarian insufficiency (POI).